A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3096n100



Internal ID20154712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8904185..9034134hg38UCSC Ensembl
chr17:8807502..8937451hg19UCSC Ensembl
chr17:8748227..8878176hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38129950
hg19129950
hg18129950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059514, nsv1060412, nsv1060995
Samples
Known GenesNTN1, PIK3R5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3096n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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